ClinVar Miner

Submissions for variant NM_004168.4(SDHA):c.830C>T (p.Thr277Met) (rs367721665)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000570331 SCV000674919 uncertain significance Hereditary cancer-predisposing syndrome 2016-03-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Blueprint Genetics RCV000208222 SCV000264221 uncertain significance Skeletal myopathy 2015-10-12 criteria provided, single submitter clinical testing
Counsyl RCV000411374 SCV000488818 uncertain significance Paragangliomas 5 2016-06-22 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000342145 SCV000457013 uncertain significance Pheochromocytoma 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000396726 SCV000457014 uncertain significance Mitochondrial complex II deficiency 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000283732 SCV000457015 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000228322 SCV000288153 uncertain significance Mitochondrial complex II deficiency; Paragangliomas 5 2018-12-25 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 277 of the SDHA protein (p.Thr277Met). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs367721665, ExAC 0.02%). This variant has been reported in an individual affected with paraganglioma (PMID: 28384794). ClinVar contains an entry for this variant (Variation ID: 222817). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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